Family raises funds for Tay-Sachs research

DOWNINGTOWN – One family is hoping to raise funds for not only awareness, but also a possible cure.

Nathan Harney, 2, who was diagnosed with Tay-Sachs Disease when he was 14 months old, is inviting one and all to his second annual Beef and Beer event at Duffers Tavern on Feb. 23.

“We’re very positive about things,” said Kathryn Harney, Nathan’s mother. She also said that the funds raised through ticket sales for the event and through its silent auction will be channeled to gene therapy trials performed by the Tay-Sachs Gene Therapy Consortium, which is now in an animal testing stage and is hoping to secure FDA approval to begin human test trials by June. “We’re hoping Nathan will be one of them.”

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Yet, while hope remains abundant throughout the Harney household, according to Kathryn, the road to such hope was unexpected and difficult.

When Nathan was about 10 months old, Kathyrn and her husband Aaron began trying to determine what was causing unexpected behavior in their son.

“We had been noticing that kind of slowly he wasn’t doing things that my friends’ kids, who were younger than him, were doing,” said Kathyrn. “But the doctors kept saying ‘Every child develops differently; you’re first time parents; he’s fine, he’s fine, he’s fine.’”

But for the young parents, the final confirmation for them that something was amiss was Nathan becoming unable to maintain his balance. “He would sit on his own, but you couldn’t walk across the room and just let him play, because if he lost his balance he couldn’t catch himself,” she said.

At that point, Nathan was placed into every early intervention therapy program they thought could help, and began consulting various specialists. “Even though we kept hearing, ‘He’s fine, he’s fine, he’s fine,’ we said, ‘We know he’s not. It’s something, but we don’t know what it is.’”

It ended up taking about four months to finally receive a diagnosis, although it was one that did not soothe the Harneys’ concerns. Prior to Nathan’s diagnosis, Kathryn had never heard of Tay-Sachs Disease, and no one in her or her husband’s family had ever been diagnosed with the disease. Both their families consist of Irish ancestry, although the disease is typically screened for in Jewish populations.

“We got the tests back and it said that he had Tay-Sachs,” said Kathryn. When Nathan was diagnosed, Kathryn began researching what Tay-Sachs meant for her family.

The diagnosis meant that Nathan had mutated genes which would lead to brain and nerve cell damage. While the most common form of the disease develops soon after a baby is born and causes death early in childhood, there is also late-onset Tay-Sachs, which can start between puberty and the mid-30s. Children with Tay-Sachs rarely live beyond 4 or 5 years old.

It was those facts that put Kathryn in denial. “We asked for another test because I said there was no way. It was so bad.”

Kathryn and Aaron, who both work for automobile insurance agencies, also could not understand how they could be carriers of the disease when there was zero history of anyone else in their families having the disease.

“Wouldn’t it have been somewhere at some point?” said Kathryn. “I just thought that this had to be wrong. But it wasn’t, and he has it.”

Kathryn said that the time following Nathan’s diagnosis were a whirlwind, much of it spent in hospitals either talking to specialists or inserting a gastric feeding tube since Nathan was beginning to breathe thin liquids, like baby formula, into his lungs. Had a feeding tube not been inserted, Nathan would be sick with pneumonia constantly, and in fact, at the time of the interview with his family, Nathan was being treated in the hospital for pneumonia.

“This is his third pneumonia,” said Kathryn. “He’s tough, and we hate going to the hospital, but if he needs to be there, he needs to be there. We hope he’s out soon.”

However, in spite of everything that the disease has thrown at the family, Kathryn and Aaron have remained not only hopeful, but also proactive.

“The upside is that we’ve met so many people who care,” said Kathryn, who added that one very big group of people who care is the Cure Tay-Sachs Foundation, which is assisting in the Beef-and-Beer Fundraiser.

The Foundation is a non-profit organization that raises funds for research projects to develop a treatment or cure for Tay-Sachs disease. The foundation began in 2007, and their board is primarily composed of individuals who have been directly affected by the disease.

“It’s great to have support from the families, but we want to fix him, we want to cure him,” said Kathryn. “That’s all that mattered to us, was fixing him, and making sure other people knew that this was Irish, too. I wish we would have known earlier, but I’m glad we know now. I mean, it is what it is. We can’t change it but I’m just glad we got a diagnosis and that we can be part of making sure that this stops.”

The Harneys’ fundraising and awareness efforts have also led them to discover that Nathan is unique in his disease. Although he is an infant, his type of disease is categorized as late-onset Tay-Sachs, which his parents hope may help his chances of being selected for human trials should the Tay-Sachs Gene Therapy Consortium receive FDA approval.

In 2012, Kathryn and Aaron raised $15,000 at the Duffers Fights Tay-Sachs for Nathan. This year they are only selling 200 tickets and are hoping to raise $20,000 through ticket sales and the auctions. The event will also include live music from the Whitewalls.

“We’re hoping to top last year,” said Kathryn. “Last year’s money went into the research, and this year’s money is going into the actual trials themselves.”

ABOUT TAY-SACHS DISEASE

WHO: While anyone can be a carrier for the disease, its likelihood is greater among people of eastern European Jewsish descent. About 1 on every 27 Jews in the U.S. is a carrier. People of French-Canadian descent from the East Saint Lawrence River Valley of Quebec and people of Cajun descent in Louisiana are also more likely to carry the gene than others. Ongoing research at the Einstein Medical Center has demonstrated that recently cases of Tay-Sachs have been steadily identified in Irish populations in the Philadelphia area. For the general population, about 1 in 250 people are carriers.

The American College of Obstetricians and Gynecologists recommends that couples considering having a child, both individuals should get a screening test if they are both of Ashkenazi Jewish or if there is a family history of the disease. A simple blood test can identify Tay-Sachs carriers. If both parents are carriers, a genetic counselor can be of help in determining how to proceed in planning a family. Carriers of Tay-Sachs disease can pass the gene to their children even if the carriers don’t have the disease. If both partners are carriers, there is a 1-in-4 chance that any child from the union will have Tay-Sachs disease.

WHAT: A rare disease that is passed down through some families. Someone with Tay-Sachs has mutated genes that do not make any or a enough amount of an enzyme, hexosaminidase A (hex A). Hex A breaks down fatty compounds, and without it, fatty compounds build up in the brain and nerve cells, causing damage. Children with Tay-Sachs rarely live beyond 4 or 5 years of age.

HOW: The disease can occur when parents pass on a mutated gene to their child. If a baby gets the gene from both parents, he or she will get the disease. If the baby gets the gene from only one parent, he or she will only be a carrier. The carrier will make enough hex A so that he or she does not get the disease, however they can pass the gene on to their own children.

SYMPTOMS: A child with Tay-Sachs disease looks healthy at birth.

- 3-6 months old: the child will make less eye contact, has a hard time focusing his or her eyes on things, and a doctor may see a red spot on the child’s retina.

- 6-10 months old: the child is not as alert and playful as he or she might have been, it might be difficult for the child to sit up or roll over, and the child does not see or hear well.